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Updated: Jun 22, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Challenges of translating genetic tests into clinical and public health practice
Wolf H Rogowski1, Scott D Grosse, Muin J Khoury
1Helmholtz Center Munich, German Research Center for Environmental Health, Ingolstädter Landstrasse 1, Neuherberg 85764, Germany. rogowski@helmholtz-muenchen.de
Abstract:
Research in genetics and genomics has led to an expanding list of molecular genetic tests, which are increasingly entering health care systems. However, the evidence surrounding the benefits and harms of these tests is frequently weak. Here we present the main challenges to the successful translation of new research findings about genotype-phenotype associations into clinical practice. We discuss the means to achieve an accelerated translation research agenda that is conducted in a reasonable, fair and efficient manner.
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